Varaico: Literature-Extracted Genetic Variants

ASXL3

394 papers

RefSeq Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate...

Pfam Domains

HARE-HTHaa 10–81UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 235–360UCSCAsx homology domain

PHD_3aa 2188–2246UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 3

HGNC Previous Symbol

KIAA1713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_030632.3

p.P545fs

c.1633_1634fs

Surrounding Variants

1 paper

NM_030632.3

p.P545delFs

c.1635delT

1 paper

NM_030632.3

p.I544delFs

c.1631delT

1 paper

NM_030632.3

p.I544_S546delFs

c.1630_1636del7

1 paper

NM_030632.3

p.S548*

c.1643C>A

1 paper

NM_030632.3

p.S548*

c.1643C>G

1 paper

NM_030632.3

p.C540R

c.1618T>C

1 paper

NM_030632.3

p.H552Y

c.1654C>T

5 papers

NM_030632.3

p.E538*

c.1612G>T

2 papers

NM_030632.3

p.Q536*

c.1606C>T

1 paper

NM_030632.3

p.T556delFs

c.1667_1668delCA

1 paper

NM_030632.3

p.D555E

c.1665C>A

1 paper

NM_030632.3

p.D555E

c.1665C>G